Retinitis Pigmentosa 26 (CERKL)

Retinitis pigmentosa 26 is an autosomal recessive disorder caused by pathogenic variants in the gene CERKL. While it has been reported in populations worldwide, it is more prevalent in Spanish individuals. Retinitis pigmentosa begins with the onset of night blindness in childhood, and progresses to tunnel vision and blindness in adulthood. Age of onset and severity of vision loss may vary between patients. Life expectancy is not reduced. No genotype-phenotype correlation has been reported.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Retinitis Pigmentosa 26CERKL1-3, 6, 9, 11, 13 [14] (c.238+1G>A, p.R283*)ARWorldwide1 in 13785%0.00110132158590308
Retinitis Pigmentosa 26CERKL1-3, 6, 9, 11, 13 [14] (c.238+1G>A, p.R283*)ARSephardic Jewish – Yemenite1 in 2433%0.0285714285714286